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1.

Detection of copy number variations in epilepsy using exome data.

Tsuchida, N; Nakashima, M; Kato, M; Heyman, E; Inui, T; Haginoya, K; Watanabe, S; Chiyonobu, T; Morimoto, M; Ohta, M; Kumakura, A; Kubota, M; Kumagai, Y; Hamano, S-I; Lourenco, C M; Yahaya, N A; Ch'ng, G-S; Ngu, L-H; Fattal-Valevski, A; Weisz Hubshman, M; Orenstein, N; Marom, D; Cohen, L; Goldberg-Stern, H; Uchiyama, Y; Imagawa, E; Mizuguchi, T; Takata, A; Miyake, N; Nakajima, H; Saitsu, H; Miyatake, S; Matsumoto, N.

Clin Genet ; 93(3): 577-587, 2018 03.

Artículo en Inglés | MEDLINE | ID: mdl-28940419

2.

Clinical and mutational spectrum of Japanese patients with Charcot-Marie-Tooth disease caused by GDAP1 variants.

Yoshimura, A; Yuan, J-H; Hashiguchi, A; Hiramatsu, Y; Ando, M; Higuchi, Y; Nakamura, T; Okamoto, Y; Matsumura, K; Hamano, T; Sawaura, N; Shimatani, Y; Kumada, S; Okumura, Y; Miyahara, J; Yamaguchi, Y; Kitamura, S; Haginoya, K; Mitsui, J; Ishiura, H; Tsuji, S; Takashima, H.

Clin Genet ; 92(3): 274-280, 2017 Sep.

Artículo en Inglés | MEDLINE | ID: mdl-28244113

3.

Molecular genetic analysis of 30 families with Joubert syndrome.

Suzuki, T; Miyake, N; Tsurusaki, Y; Okamoto, N; Alkindy, A; Inaba, A; Sato, M; Ito, S; Muramatsu, K; Kimura, S; Ieda, D; Saitoh, S; Hiyane, M; Suzumura, H; Yagyu, K; Shiraishi, H; Nakajima, M; Fueki, N; Habata, Y; Ueda, Y; Komatsu, Y; Yan, K; Shimoda, K; Shitara, Y; Mizuno, S; Ichinomiya, K; Sameshima, K; Tsuyusaki, Y; Kurosawa, K; Sakai, Y; Haginoya, K; Kobayashi, Y; Yoshizawa, C; Hisano, M; Nakashima, M; Saitsu, H; Takeda, S; Matsumoto, N.

Clin Genet ; 90(6): 526-535, 2016 12.

Artículo en Inglés | MEDLINE | ID: mdl-27434533

4.

Progressive atrophy of the cerebrum in 2 Japanese sisters with microcephaly with simplified gyri and enlarged extraaxial space.

Hirose, M; Haginoya, K; Yokoyama, H; Kikuchi, A; Hino-Fukuyo, N; Munakata, M; Uematsu, M; Iinuma, K; Kato, M; Yamamoto, T; Tsuchiya, S.

Neuropediatrics ; 42(4): 163-6, 2011 Aug.

Artículo en Inglés | MEDLINE | ID: mdl-21932181

5.

The cytokine and chemokine profiles in rhabdomyolysis in a patient with Gaucher disease type II.

Wakusawa, K; Haginoya, K; Ishitobi, M; Hino-Fukuyo, N; Togashi, N; Sato, I; Ohura, T; Yokoyama, H; Kikuchi, M; Iinuma, K; Tsuchiya, S.

Neuropediatrics ; 41(1): 39-42, 2010 Feb.

Artículo en Inglés | MEDLINE | ID: mdl-20571990

6.

Efficacy of continuous acyclovir infusion in neonatal herpes virus encephalitis.

Kakisaka, Y; Ishitobi, M; Wakusawa, K; Haginoya, K; Togashi, N; Kitamura, T; Hino-Fukuyo, N; Sato, I; Uematsu, M; Tsuchiya, S.

Neuropediatrics ; 40(4): 199-200, 2009 Aug.

Artículo en Inglés | MEDLINE | ID: mdl-20135579

7.

[Corpus callosotomy for children with intractable generalized epilepsy: factors for long-term seizure remission].

Iwasaki, M; Uematsu, M; Nakayama, T; Fukuyo, N; Haginoya, K; Jin, K; Osawa, S; Nakazato, N; Tominaga, T.

No To Hattatsu ; 45(3): 195-8, 2013 May.

Artículo en Japonés | MEDLINE | ID: mdl-23785833

8.

[Needs for child neurologists, learned from the Great East Japan Earthquake].

Tanaka, S; Siihara, T; Yoshida, H; Morita, H; Sato, H; Nagai, T; Haginoya, K.

No To Hattatsu ; 45(3): 227-30, 2013 May.

Artículo en Japonés | MEDLINE | ID: mdl-23785840

9.

[Glucocorticoid treatment for Duchenne muscular dystrophy in Japan: an expert opinion].

Haginoya, K; Sugie, H.

No To Hattatsu ; 44(3): 234-8, 2012 May.

Artículo en Japonés | MEDLINE | ID: mdl-22712227

10.

[Movement disorders in children].

Yokochi, K; Haginoya, K.

No To Hattatsu ; 44(2): 141-4, 2012 Mar.

Artículo en Japonés | MEDLINE | ID: mdl-22550894

11.

Mutation in the caveolin-3 gene causes a peculiar form of distal myopathy.

Tateyama, M; Aoki, M; Nishino, I; Hayashi, Y K; Sekiguchi, S; Shiga, Y; Takahashi, T; Onodera, Y; Haginoya, K; Kobayashi, K; Iinuma, K; Nonaka, I; Arahata, K; Itoyama, Y; Itoyoma, Y.

Neurology ; 58(2): 323-5, 2002 Jan 22.

Artículo en Inglés | MEDLINE | ID: mdl-11805270

12.

Adaptive response in embryogenesis. III. Relationship to radiation-induced apoptosis and Trp53 gene status.

Wang, B; Ohyama, H; Haginoya, K; Odaka, T; Itsukaichi, H; Yukawa, O; Yamada, T; Hayata, I.

Radiat Res ; 154(3): 277-82, 2000 Sep.

Artículo en Inglés | MEDLINE | ID: mdl-10956433

13.

Prenatal radiation-induced limb defects mediated by Trp53-dependent apoptosis in mice.

Wang, B; Ohyama, H; Haginoya, K; Odaka, T; Yamada, T; Hayata, I.

Radiat Res ; 154(6): 673-9, 2000 Dec.

Artículo en Inglés | MEDLINE | ID: mdl-11096424

14.

Adaptive response in embryogenesis: II. Retardation of postnatal development of prenatally irradiated mice.

Wang, B; Ohyama, H; Haginoya, K; Odaka, T; Itsukaichi, H; Nose, M; Nakajima, T; Yukawa, O; Yamada, T; Hayata, I.

Radiat Res ; 152(2): 119-23, 1999 Aug.

Artículo en Inglés | MEDLINE | ID: mdl-10409320

15.

Elevated plasma levels of transforming growth factor beta1 in patients with muscular dystrophy.

Ishitobi, M; Haginoya, K; Zhao, Y; Ohnuma, A; Minato, J; Yanagisawa, T; Tanabu, M; Kikuchi, M; Iinuma, K.

Neuroreport ; 11(18): 4033-5, 2000 Dec 18.

Artículo en Inglés | MEDLINE | ID: mdl-11192624

16.

Dystrophin immunohistochemistry in a symptomatic carrier of Becker muscular dystrophy.

Haginoya, K; Yamamoto, K; Iinuma, K; Yanagisawa, T; Ichinohasama, Y; Shimmoto, M; Suzuki, Y; Tada, K.

J Neurol ; 238(7): 375-8, 1991 Oct.

Artículo en Inglés | MEDLINE | ID: mdl-1683669

17.

A novel mutation in glial fibrillary acidic protein gene in a patient with Alexander disease.

Aoki, Y; Haginoya, K; Munakata, M; Yokoyama, H; Nishio, T; Togashi, N; Ito, T; Suzuki, Y; Kure, S; Iinuma, K; Brenner, M; Matsubara, Y.

Neurosci Lett ; 312(2): 71-4, 2001 Oct 19.

Artículo en Inglés | MEDLINE | ID: mdl-11595337

18.

Reduced regional cerebral metabolic rate for glucose at the terminal stage in a case of late infantile neuronal ceroid lipofuscinosis.

Fueki, N; Iinuma, K; Kojima, A; Yanai, K; Haginoya, K; Tada, K; Ido, T; Ito, M.

J Child Neurol ; 5(2): 98-100, 1990 Apr.

Artículo en Inglés | MEDLINE | ID: mdl-2345285

19.

A clinical trial of interferon therapy in a case of rapidly progressive SSPE.

Sone, S; Maeda, K; Haginoya, K; Sakuragawa, N; Kisa, T; Yoshioka, H; Arima, M.

Brain Dev ; 8(6): 636-40, 1986.

Artículo en Inglés | MEDLINE | ID: mdl-2435185

20.

The origin of hypsarrhythmia and tonic spasms in West syndrome: evidence from a case of porencephaly and hydrocephalus with focal hypsarrhythmia.

Haginoya, K; Kon, K; Tanaka, S; Munakata, M; Kato, R; Nagai, M; Yokoyama, H; Maruoka, S; Yamazaki, T; Iinuma, K.

Brain Dev ; 21(2): 129-31, 1999 Mar.

Artículo en Inglés | MEDLINE | ID: mdl-10206533

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